Variant report

Variant	rs303218
Chromosome Location	chr10:91152593-91152594
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10788641	0.84[MEX][hapmap]
rs10887946	1.00[MEX][hapmap]
rs11203078	1.00[MEX][hapmap]
rs184236	0.97[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs188589	0.97[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs188591	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2484046	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2484047	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs303171	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs303173	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs303208	1.00[JPT][hapmap];0.84[MEX][hapmap]
rs303209	0.92[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs303210	0.82[ASW][hapmap];0.94[CEU][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs303212	1.00[JPT][hapmap]
rs303213	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs303215	0.94[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs303216	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs304411	0.82[ASW][hapmap];0.82[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs304434	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs304436	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs304437	0.82[ASW][hapmap];0.94[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304441	0.94[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304442	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs304447	0.97[GIH][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs304450	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs304492	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs304493	0.94[CEU][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs304497	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs304498	1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs304500	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.83[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs304501	0.84[MEX][hapmap]
rs304502	0.82[ASW][hapmap];0.94[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs304503	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs304505	0.82[ASW][hapmap];0.94[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs304506	0.94[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs304508	0.84[MEX][hapmap]
rs627127	0.80[MEX][hapmap]
rs781501	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs303218	RPP30	cis	parietal	SCAN
rs303218	IFIT1	Cis_1M	lymphoblastoid	RTeQTL
rs303218	IFIT1	cis	cerebellum	SCAN
rs303218	IFIT5	cis	Esophagus Muscularis	GTEx
rs303218	LIPA	cis	parietal	SCAN
rs303218	IFIT5	cis	Artery Tibial	GTEx
rs303218	IFIT5	cis	Esophagus Mucosa	GTEx
rs303218	IDE	cis	parietal	SCAN
rs303218	IFIT5	cis	parietal	SCAN
rs303218	IFIT5	Cis_1M	lymphoblastoid	RTeQTL
rs303218	IFIT5	cis	cerebellum	SCAN
rs303218	IFIT5	cis	Thyroid	GTEx
rs303218	IFIT5	cis	Nerve Tibial	GTEx
rs303218	IFIT5	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91150400-91152800	Enhancers	Small Intestine	intestine
2	chr10:91151400-91154200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr10:91151600-91152600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr10:91151600-91152600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:91151600-91152600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr10:91151600-91152600	Active TSS	Stomach Mucosa	stomach
7	chr10:91151600-91152600	Active TSS	Thymus	Thymus
8	chr10:91151600-91152800	Active TSS	Primary T cells fromperipheralblood	blood
9	chr10:91151600-91152800	Active TSS	Brain Cingulate Gyrus	brain
10	chr10:91151600-91153000	Active TSS	Aorta	Aorta
11	chr10:91151600-91153400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr10:91151600-91153400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:91151600-91153600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr10:91151600-91153600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr10:91151600-91153600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr10:91151600-91153800	Active TSS	Brain Anterior Caudate	brain
17	chr10:91151600-91154000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:91151600-91154000	Flanking Active TSS	Liver	Liver
19	chr10:91151600-91154200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr10:91151600-91154200	Active TSS	Right Atrium	heart
21	chr10:91151600-91154200	Active TSS	NHLF	lung
22	chr10:91151800-91152600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:91151800-91152600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:91151800-91152600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:91151800-91152600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr10:91151800-91152600	Active TSS	Placenta Amnion	Placenta Amnion
27	chr10:91151800-91152600	Active TSS	HepG2	liver
28	chr10:91151800-91152600	Active TSS	K562	blood
29	chr10:91151800-91152800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr10:91151800-91152800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr10:91151800-91152800	Active TSS	Placenta	Placenta
32	chr10:91151800-91152800	Active TSS	Left Ventricle	heart
33	chr10:91151800-91153000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr10:91151800-91153000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr10:91151800-91153000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr10:91151800-91153000	Active TSS	HSMMtube	muscle
37	chr10:91151800-91153000	Active TSS	NHDF-Ad	bronchial
38	chr10:91151800-91153200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr10:91151800-91153200	Active TSS	Fetal Muscle Trunk	muscle
40	chr10:91151800-91153400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr10:91151800-91153400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:91151800-91153400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr10:91151800-91153800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:91151800-91153800	Active TSS	Brain Substantia Nigra	brain
45	chr10:91151800-91153800	Active TSS	Right Ventricle	heart
46	chr10:91151800-91154600	Active TSS	Fetal Muscle Leg	muscle
47	chr10:91151800-91154800	Active TSS	Brain Angular Gyrus	brain
48	chr10:91151800-91154800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr10:91151800-91154800	Active TSS	Ovary	ovary
50	chr10:91152000-91152600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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